Assuntos
Displasia Ectodérmica/complicações , Atresia Esofágica/complicações , Microftalmia/complicações , Malformações do Sistema Nervoso/complicações , Fatores de Transcrição SOXB1/genética , Couro Cabeludo/patologia , Displasia Ectodérmica/genética , Atresia Esofágica/genética , Feminino , Humanos , Lactente , Microftalmia/genética , Mutação , Malformações do Sistema Nervoso/genéticaRESUMO
The Yunis-Varón syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor outcome. Here, we report two sisters with YVS who also had papillo-macular atrophic chorioretinopathy with "salt-and-pepper" appearance that could not be attributed to environmental or metabolic causes. Our best hypothesis is that the ocular findings in our two patients are part of the phenotypic manifestations of YVS. We suggest that an extensive ophthalmologic examination should be carried out in all children with YVS in order to define the frequency and nature of the ocular findings in these patients.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Anormalidades Múltiplas/genética , Displasia Cleidocraniana/diagnóstico , Displasia Ectodérmica/diagnóstico , Evolução Fatal , Feminino , Genes Recessivos , Humanos , Lactente , Cariotipagem , Deformidades Congênitas dos Membros/diagnóstico , Micrognatismo/diagnóstico , IrmãosRESUMO
Prenatal exposure to methotrexate (MTX) in the first trimester may lead to fetal death, and surviving children have increased risks for cranial dysostosis, dysmorphic facies, skeletal malformations, limb defects, growth retardation, and, in some cases, developmental delay, a pattern of defects recognized as fetal MTX syndrome (FMS). We report on a male infant who, in addition to severe FMS, showed previously undescribed central nervous system (CNS) and genitourinary anomalies that contributed to the further delineation. The propositus was born to a G2, 20-year-old mother with an irregular menstrual history. The unplanned pregnancy was complicated by oral MTX treatment (5 mg/day) for suspected systemic lupus erythematosus for 14 days at the 5th week post-conception, as dated by the first trimester sonogram. In addition to the typical features of the FMS, our propositus exhibited congenital penile curvature, vesicoureteral reflux, hydronephrosis, and severe CNS anomalies including semilobar holoprosencephaly (HPE). A single previous report of lobar-type HPE in an infant with FMS led us to confirm that the HPE observed in the propositus is a feature attributable to MTX teratogenicity, although the exact mechanisms of the HPE production need to be further elucidated. Also, this case serves to highlight the presence of genitourinary anomalies in patients with FMS, a fact that requires intentional searches in future patients in order to confirm this as being characteristic of the entity.
Assuntos
Feto/anormalidades , Feto/efeitos dos fármacos , Holoprosencefalia/complicações , Metotrexato/efeitos adversos , Anormalidades Urogenitais/complicações , Refluxo Vesicoureteral/complicações , Adulto , Fissura Palatina/complicações , Feminino , Humanos , Hidronefrose/complicações , Hidronefrose/diagnóstico por imagem , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Pênis/anormalidades , Gravidez , Radiografia , Crânio/anormalidades , Crânio/diagnóstico por imagem , Síndrome , Adulto JovemRESUMO
Encirclement of a fetal body part by the umbilical cord with or without vascular obstruction in either the umbilical cord or the encircled fetal part is considered an umbilical cord loop (UCL). Significant disruption of the encircled fetal parts is recognized as the umbilical cord disruption sequence (UCDS). UCL around fetal parts is an occasional anomaly in infants with amyoplasia. We report on 2 patients with amyoplasia and damage to the fetal limbs caused by UCDS and a long umbilical cord. Patient 1 showed two deep constrictions on the left lower limb caused by UCL with an intact skin and a mild mark of constriction on the left wrist. The umbilical cord in patient 2 produced 5 entanglements around the left thigh which resulted in a deep groove extending down to the femur and also showed an exposed fracture and gangrene of the entire lower limb with an unusual congenital paraumbilical "stoma" that corresponded to the afferent loops of a jejunal atresia. The UCDS in infants with amyoplasia has been associated with short umbilical cords, whereas in patients without congenital contractures, the UCDS or UCL has been related to long umbilical cords. Our observations of UCDS in patients with amyoplasia but with long umbilical cords suggest the influence of both pathogenic factors or the existence of additional mechanisms. Evidence in patient 2 may support a vascular pathogenesis.
Assuntos
Artrogripose , Feto , Deformidades Congênitas dos Membros/etiologia , Cordão Umbilical/anormalidades , Adulto , Artrogripose/patologia , Constrição Patológica/complicações , Constrição Patológica/patologia , Feminino , Feto/anormalidades , Feto/patologia , Humanos , Lactente , Recém-Nascido , Deformidades Congênitas dos Membros/patologia , Masculino , Gravidez , Cordão Umbilical/patologiaAssuntos
Agenesia do Corpo Caloso , Aqueduto do Mesencéfalo/anormalidades , Craniossinostoses/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Dedos/anormalidades , Hidrocefalia/diagnóstico , Tórax/anormalidades , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/genética , Deficiências do Desenvolvimento/genética , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/genética , Lactente , Imageamento por Ressonância Magnética , Masculino , Radiografia , SíndromeRESUMO
Stüve-Wiedemann syndrome (SWS) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from hyperthermia or apnea. We describe two female siblings with SWS born from consanguineous Gypsy parents. For a further delineation of SWS, we report hypothyroidism and ectopic thyroid as part of its phenotypic spectrum. Molecular study in the leukemia inhibitory factor receptor (LIFR) gene (OMIM *151 443) demonstrated the presence of a mutation. We observed that in one of our patients, oropharyngeal disruption in the swallowing process caused repetitive aspiration pneumonias, life-threatening events, and finally death. We emphasize that these features represent dysautonomic manifestations of SWS, and are probably related to pharyngoesophageal dyskinesia due to abnormal autonomic control of the anterior rami of cervical roots C1-C5.